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  • Title: Portohepatic shunt in a Down syndrome patient with an interchange trisomy 47,XY,-2,+der(2),+der(21)t(2;21)(p13;q22.1)mat.
    Author: Kieran MW, Vekemans M, Robb LJ, Sinsky A, Outerbridge EW, Der Kaloustian VM.
    Journal: Am J Med Genet; 1992 Oct 01; 44(3):288-92. PubMed ID: 1488975.
    Abstract:
    A rare vascular portohepatic anomaly was identified in a Down syndrome patient with a 47,XY,-2,+der(2),+der(21)t(2;21)(p13;q22.1) mat chromosomal complement. This vascular defect involves a direct communication between the right portal vein and the inferior vena cava (IVC). We discuss the possibility that this vascular defect is a rare manifestation in Down syndrome. Alternatively, the existence of these 2 rare events in the same patient raises the possibility that they are causally related.
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